5q22.3CNV Type: Deletion
Largest CNV size: 73084 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
105769
8
0
8
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
762000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1191633
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
2739
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
132277
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
73084
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
108916
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
53432
49
0
49
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
172655
2
3
5
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
65743
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
108916
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
116328
40
0
40
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case13174_1913
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114078654
114153802
75149
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14260_3830
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113848514
113919060
70547
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14312_4290
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114572494
114658074
85581
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3037_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113793175
113836231
43057
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3432_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113879566
113919060
39495
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4290_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114226069
114273477
47409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5534_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113743657
113849426
105770
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5549_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113743657
113849426
105770
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12885.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
113876404
114636404
760001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004895
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114504911
115696544
1191634
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1958
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
113160490
113163228
2739
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case12885.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
114363905
114496182
132278
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0023-000
NA
F
ASD
NA
NA
113741320
113814404
73085
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case114954L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
113106785
113215700
108916
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60504-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
113106785
113215700
108916
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11051.p1
12.2
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
114774429
114809224
34796
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
113991864
113999533
7670
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
113991864
113999533
7670
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11187.p1
7.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11194.p1
5.3
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
113991864
113999533
7670
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11518.p1
11.2
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11872.p1
7.8
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11975.p1
6.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 59; verbal IQ, 75
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12239.p1
9.1
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
114809827
114863259
53433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
115391789
115392781
993
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
115192381
115211209
18829
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12415.p1
12.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12543.p1
8.9
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12641.p1
10.3
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
115391789
115392781
993
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13093.p1
13.9
M
Autism
NA
Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
113814901
113836231
21331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13096.p1
5.6
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
115391789
115392781
993
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB303773_1007874624
N/A
N/A
Control
No previous psychiatric history
114684051
114856706
172656
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB431232_1007840502
N/A
N/A
Control
No previous psychiatric history
114502882
114565393
62512
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
N/A
N/A
Control
No previous psychiatric history
115691375
115795229
103855
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900467_900467
N/A
N/A
Control
No previous psychiatric history
113799037
113855614
56578
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900587_900587
N/A
N/A
Control
No previous psychiatric history
114604490
114670467
65978
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1494
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
114218797
114284539
65743
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
113991864
113999533
7670
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11491.s1
8.7
M
Control (matched sibling)
NA
NA
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11495.s1
7.5
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
114809827
114863259
53433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12015.s1
9
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
114786201
114792096
5896
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12051.s1
7.5
M
Control (matched sibling)
NA
NA
113814901
113836231
21331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
113818100
113836231
18132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12185.s1
4.9
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
115391789
115392781
993
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12313.s1
9.8
F
Control (matched sibling)
NA
NA
114604490
114670467
65978
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12390.s1
4.3
M
Control (matched sibling)
NA
NA
114806145
114857096
50952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12462.s1
20.8
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
113743657
113859985
116329
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12641.s1
7.6
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12764.s1
13.5
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
115391789
115392781
993
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12923.s1
5.8
M
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
114809827
114864928
55102
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
114809827
114864928
55102
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
113991864
114000901
9038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13093.s1
16.2
F
Control (matched sibling)
NA
NA
113824793
113836231
11439
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13174_1913
Unknown
KCNN2
engchuan_15_ASD_discovery_cases-case14260_3830
Unknown
engchuan_15_ASD_discovery_cases-case14312_4290
Unknown
LINC01957
engchuan_15_ASD_discovery_cases-case3037_3
Unknown
engchuan_15_ASD_discovery_cases-case3432_3
Unknown
engchuan_15_ASD_discovery_cases-case4290_1
Unknown
RN7SKP89,KCNN2
engchuan_15_ASD_discovery_cases-case5534_3
Unknown
engchuan_15_ASD_discovery_cases-case5549_3
Unknown
girirajan_13a_ASD_discovery_cases-12885.p1
Unknown
Simplex
Unknown
RN7SKP89,LINC01957,KCNN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004895
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC01957,TRIM36-IT1,HMGN1P15,CTNNA1P1,AK3P4,CCT5P1,TRIM36,CCDC112,FEM1C,TICAM2,TMED7,PGGT1B,TMED7-TICAM2
kanduri_15_ASD_discovery_cases-case1958
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, YTHDC2(dist=229506),KCNN2(dist=534788)
krumm_15_ASD_discovery_cases-case12885.p1
1M-Duov3
Paternal
Simplex
Segregated
KCNN2
marshall_08_ASD_discovery_cases-NA0023-000
qPCR, qmPCR
Unknown
NA
NA
prasad_12_ASD_discovery_cases-case114954L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60504-L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11051.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11063.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11115.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11187.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11188.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11194.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11245.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11491.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11495.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11644.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11645.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11720.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11872.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11975.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12060.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12060.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12078.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12081.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12149.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12239.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12266.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12299.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA1P1
sanders_11_ASD_discovery_cases-12320.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PGGT1B
sanders_11_ASD_discovery_cases-12329.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12346.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12415.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12472.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12543.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12555.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12579.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12641.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12690.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12708.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12805.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12894.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12923.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12979.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13016.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTNNA1P1
sanders_11_ASD_discovery_cases-13093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13096.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13152.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CTNNA1P1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB303773_1007874624
Unknown
engchuan_15_ASD_discovery_controls-controlB431232_1007840502
Unknown
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
Unknown
RNU2-49P
engchuan_15_ASD_discovery_controls-controlHABC_900467_900467
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900587_900587
Unknown
kanduri_15_ASD_discovery_controls-control_split1494
Unknown
Intergenic CNV: nearest genes, KCNN2(dist=386600),TRIM36(dist=175920)
sanders_11_ASD_discovery_controls-11063.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11187.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11353.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11491.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11495.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11504.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11522.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11530.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11584.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11720.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11872.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12015.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12118.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12150.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12185.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12299.s1
Maternal
Simplex (quad)
NA
CTNNA1P1
sanders_11_ASD_discovery_controls-12313.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12390.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12403.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12462.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12605.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12641.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12708.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12736.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12764.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12859.s1
Paternal
Simplex (quad)
NA
CTNNA1P1
sanders_11_ASD_discovery_controls-12923.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13012.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13015.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13016.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13093.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available